ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827003172
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2747514
ClinVar RCV Id:
RCV003511639
RCV004011433
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Leu981Met
CA394285548
NM_001318827.2:c.2941C>A